MCID: ATR001
MIFTS: 56

Atrioventricular Septal Defect

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrioventricular Septal Defect

MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 57 12 76 53 37 29 55 6 15
Atrioventricular Canal Defect 57 12 29 6
Atrioventricular Septal Defect, Susceptibility to, 1 57 13
Endocardial Cushion Defect 57 12
Avsd 57 12
Avcd 57 12
Ecd 57 12
Atrioventricular Canal Defect; Avcd 57
Atrioventricular Septal Defect 1 57
Endocardial Cushion Defect; Ecd 57
Septal Defect, Atrioventricular 40
Endocardial Cushion Defects 44
Avc Defect 57

Classifications:



External Ids:

OMIM 57 606215
Disease Ontology 12 DOID:0050651
ICD10 33 Q21.2
ICD9CM 35 745.6 745.60
MeSH 44 D004694
MedGen 42 C1389016
KEGG 37 H00547
UMLS 73 C0014116

Summaries for Atrioventricular Septal Defect

OMIM : 57 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215)

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to partial atrioventricular canal and complete atrioventricular canal-tetralogy of fallot syndrome. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. The drugs Anticoagulants and Blood Substitutes have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and atrioventricular node, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

Wikipedia : 76 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as \"common... more...

Related Diseases for Atrioventricular Septal Defect

Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 partial atrioventricular canal 33.2 CRELD1 GATA4 GATA6
2 complete atrioventricular canal-tetralogy of fallot syndrome 31.5 CRELD1 GATA4
3 complete atrioventricular canal-left heart obstruction syndrome 31.5 CRELD1 GATA4
4 complete atrioventricular canal-ventricle hypoplasia syndrome 31.3 CRELD1 GATA4 GATA6
5 transposition of the great arteries 30.7 GDF1 NKX2-5
6 patent ductus arteriosus 1 29.5 CRELD1 GATA4 GATA6 GDF1 NKX2-6
7 tricuspid atresia 29.5 CRELD1 GDF1 NKX2-5 NKX2-6
8 ebstein anomaly 29.1 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
9 ventricular septal defect 29.1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
10 atrial heart septal defect 28.8 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
11 double outlet right ventricle 28.4 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
12 tetralogy of fallot 27.1 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
13 heart disease 25.9 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
14 atrioventricular septal defect 4 12.5
15 atrioventricular septal defect 5 12.5
16 atrioventricular septal defect 2 12.5
17 atrioventricular septal defect 3 12.5
18 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.2
19 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.1
20 complete atrioventricular canal 11.6
21 ritscher-schinzel syndrome 1 11.5
22 right atrial isomerism 11.3
23 atrial heart septal defect 7 11.3
24 erdheim-chester disease 11.3
25 atrial septal defect 7 with or without atrioventricular conduction defects 11.1
26 split-hand/foot malformation 1 11.1
27 ellis-van creveld syndrome 11.1
28 atrial septal defect 2 11.1
29 chromosome 3pter-p25 deletion syndrome 11.1
30 chromosome 8p23.1 deletion 11.1
31 hemifacial atrophy, progressive 10.9
32 ventricular septal defect 1 10.7 AVSD1 GATA4
33 down syndrome 10.5
34 hypoplastic left heart syndrome 1 10.5 FOXP1 GJA1
35 weyers acrofacial dysostosis 10.5 EVC EVC2
36 anomalous left coronary artery from the pulmonary artery 10.3 CRELD1 GJA1
37 clouston syndrome 10.3 EVC EVC2 GJA1
38 pulmonary hypertension 10.3
39 cor triatriatum 10.3
40 patent foramen ovale 10.3 GATA4 NKX2-5 TBX5
41 atrial septal defect ostium primum 10.2
42 atrioventricular block 10.2 GATA4 NKX2-5 TBX5
43 aging 10.2
44 tricuspid valve stenosis 10.2 CRELD1 GJA1 NKX2-6
45 total anomalous pulmonary venous return 1 10.2 CRELD1 GDF1 NKX2-6
46 char syndrome 10.2 EVC NKX2-5 TBX5
47 cerebritis 10.1
48 heterotaxy 10.1
49 dextro-looped transposition of the great arteries 10.1 GDF1 NKX2-6
50 atrial septal defect 4 10.1 GATA4 GATA6 NKX2-5 TBX5

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect

Symptoms & Phenotypes for Atrioventricular Septal Defect

Clinical features from OMIM:

606215

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 CRELD1 EVC EVC2 GATA4 GATA6 GDF1
2 growth/size/body region MP:0005378 10.22 EDN1 EVC EVC2 GATA4 GATA6 GDF1
3 cardiovascular system MP:0005385 10.19 CRELD1 EDN1 GATA4 GATA6 GDF1 GJA1
4 embryo MP:0005380 10.13 NKX2-6 TBX1 TBX5 CRELD1 EDN1 GATA4
5 mortality/aging MP:0010768 10.13 CRELD1 EDN1 EVC EVC2 GATA4 GATA6
6 craniofacial MP:0005382 10.06 EVC2 GDF1 GJA1 NKX2-5 TBX1 CRELD1
7 limbs/digits/tail MP:0005371 9.91 EVC EVC2 GATA4 GATA6 GJA1 TBX1
8 normal MP:0002873 9.85 EDN1 EVC2 GATA4 GATA6 GDF1 GJA1
9 muscle MP:0005369 9.8 EDN1 GATA4 GATA6 GJA1 NKX2-5 TBX1
10 respiratory system MP:0005388 9.5 GATA6 GDF1 GJA1 NKX2-5 NKX2-6 TBX1
11 skeleton MP:0005390 9.28 EDN1 EVC EVC2 GATA4 GDF1 GJA1

Drugs & Therapeutics for Atrioventricular Septal Defect

Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticoagulants Phase 2
2 Blood Substitutes Phase 2
3 Dextrans Phase 2
4 Pharmaceutical Solutions Phase 2
5 Plasma Substitutes Phase 2
6
Nitric Oxide Approved Phase 1 10102-43-9 145068 160954
7 carnitine Nutraceutical Phase 1
8
Dexmedetomidine Approved, Vet_approved Not Applicable 113775-47-6 68602 5311068
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Not Applicable 437-38-7 3345
10
Acetaminophen Approved Not Applicable 103-90-2 1983
11
Mechlorethamine Approved, Investigational 51-75-2 4033
12 Adjuvants, Anesthesia Not Applicable
13 Adrenergic Agents Not Applicable
14 Adrenergic Agonists Not Applicable
15 Adrenergic alpha-2 Receptor Agonists Not Applicable
16 Adrenergic alpha-Agonists Not Applicable
17 Analgesics Not Applicable
18 Analgesics, Non-Narcotic Not Applicable
19 Analgesics, Opioid Not Applicable
20 Anesthetics Not Applicable
21 Anesthetics, General Not Applicable
22 Anesthetics, Intravenous Not Applicable
23 Central Nervous System Depressants Not Applicable
24 Hypnotics and Sedatives Not Applicable
25 Narcotics Not Applicable
26 Neurotransmitter Agents Not Applicable
27 Peripheral Nervous System Agents Not Applicable
28 Antipyretics Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
2 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
3 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
4 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
5 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
6 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
7 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Not Applicable Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
8 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
9 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Completed NCT03047343
10 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305 Not Applicable
11 National Congenital Heart Disease Audit Recruiting NCT02303535
12 Infant Weight Gain With Trisomy 21 and CAVC Terminated NCT00327951
13 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

Genetic Tests for Atrioventricular Septal Defect

Genetic tests related to Atrioventricular Septal Defect:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 29
2 Atrioventricular Canal Defect 29

Anatomical Context for Atrioventricular Septal Defect

MalaCards organs/tissues related to Atrioventricular Septal Defect:

41
Heart, Lung, Atrioventricular Node, Testes

Publications for Atrioventricular Septal Defect

Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 453)
# Title Authors Year
1
Reoperation for left atrioventricular valve failure in repaired atrioventricular septal defect: Can more valves be preserved in the current era? ( 29968369 )
2018
2
Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. ( 29249442 )
2018
3
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
4
Surgery for partial atrioventricular septal defect with pulmonary hypertension in an adult dog. ( 29877312 )
2018
5
Coexistence of Right Ventricular Myxoma and Atrioventricular Septal Defect. ( 29310556 )
2018
6
One-stage definitive repair of complete atrioventricular septal defect and pulmonary atresia with major aortopulmonary collateral arteries. ( 29049668 )
2018
7
The CHSS Complete Atrioventricular Septal Defect Cohort: Baseline, Pre-Intervention Echocardiographic Characteristics. ( 29428621 )
2018
8
Annuloplasty band implantation in adults with partial atrioventricular septal defect: a propensity-matched study. ( 29069357 )
2018
9
Late arrhytmias after repair of atrioventricular septal defect: Down's Syndrome is not the culprit. ( 29407082 )
2018
10
Unilateral lung agenesis, hiatal hernia and atrioventricular septal defect: a rare combination of congenital anomalies. ( 29754141 )
2018
11
Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection. ( 29649131 )
2018
12
Influence of staged repair and primary repair on outcomes in patients with complete atrioventricular septal defect and tetralogy of Fallot: a systematic review and meta-analysis. ( 29049707 )
2018
13
Clinical, echocardiographic and analytical parameters in patients with atrioventricular septal defect with and without Down syndrome. ( 29503025 )
2018
14
Large nonapical right ventricular diverticulum in a patient with atrioventricular septal defect. ( 29922027 )
2018
15
Does biventricular conversion bring survival benefits to patients with an unbalanced atrioventricular septal defect? ( 29365065 )
2018
16
Long-term outcomes following partial atrioventricular septal defect (AVSD) repair in Ireland. ( 29943216 )
2018
17
A review of the Nunn modified single patch technique for atrioventricular septal defect repair. ( 29770291 )
2018
18
CRELD1 gene variants and atrioventricular septal defects in Down syndrome. ( 29054759 )
2018
19
Sequential Melody Valve Insertion After Repair of Tetralogy of Fallot Atrioventricular Septal Defect. ( 29455823 )
2018
20
Macroreentrant atrial tachycardia around the native common atrioventricular valve in a surgically corrected complete atrioventricular septal defect. ( 28339864 )
2017
21
Surgical repair of partial atrioventricular septal defect. ( 28523023 )
2017
22
Surgeons, valve repair in severely unbalanced atrioventricular septal defect, and the emperor's new clothes. ( 28967414 )
2017
23
Prophylactic Pulmonary Artery Reduction in a Young Female with Severe Pulmonary Hypertension from Complete Atrioventricular Septal Defect. ( 28154602 )
2017
24
Technical Performance Score: Predictor of Outcomes in Complete Atrioventricular Septal Defect Repair. ( 28648535 )
2017
25
Repair of complete atrioventricular septal defect with tetralogy of Fallot. ( 28164023 )
2017
26
Mid-term outcomes in unbalanced complete atrioventricular septal defect: role of biventricular conversion from single-ventricle palliation. ( 28521020 )
2017
27
Technical Performance Score Predicts Partial/Transitional Atrioventricular Septal Defect Outcomes. ( 29269131 )
2017
28
Right Dominant Atrioventricular Septal Defect: The Road to a Unified Model of Echocardiographic Interpretation. ( 29187108 )
2017
29
Successful atrioventricular valve repair improves long-term outcomes in children with unbalanced atrioventricular septal defect. ( 28743383 )
2017
30
Early pulmonary arterial hypertension immediately after closure of a ventricular or complete atrioventricular septal defect beyond 6months of age. ( 27866021 )
2017
31
Symptomatic partial and transitional atrioventricular septal defect repaired in infancy. ( 29288192 )
2017
32
Perioperative and Anesthetic Considerations in Atrioventricular Septal Defect. ( 28592182 )
2017
33
Repair of Atrioventricular Septal Defect and Transposition in Left Isomerism. ( 28359497 )
2017
34
Modified Single-Patch Technique Versus Two-Patch Technique for the Repair of Complete Atrioventricular Septal Defect: A Meta-Analysis. ( 28711966 )
2017
35
Propensity score matched analysis of partial atrioventricular septal defect repair in infancy. ( 29196540 )
2017
36
Decision-Making in Unbalanced Atrioventricular Septal Defect: Examining Another Piece of the Puzzle. ( 28696883 )
2017
37
Feasibility of Biventricular Repair in Right Dominant Unbalanced Atrioventricular Septal Defect: A New Echocardiographic Metric to Refine Surgical Decision-Making. ( 28696869 )
2017
38
Long-term outcomes of reoperations following repair of partial atrioventricular septal defect. ( 26920940 )
2016
39
Surgical repair of a complete atrioventricular septal defect with tetralogy of Fallot using a classical one-patch technique and pulmonary valve preservation. ( 27681859 )
2016
40
Transesophageal echocardiography in an atrioventricular septal defect. ( 27716686 )
2016
41
Echocardiographic Predictors of Left Ventricular Outflow Tract Obstruction following Repair of Atrioventricular Septal Defect. ( 27834986 )
2016
42
Bioinformatic Analysis of Genes and MicroRNAs Associated With Atrioventricular Septal Defect in Down Syndrome Patients. ( 27396555 )
2016
43
Cor Triatriatum with Partial Atrioventricular Septal Defect. ( 27293530 )
2016
44
Complete Atrioventricular Septal Defect with Truncus Arteriosus and Interrupted Aortic Arch in the Fetus. ( 26910376 )
2016
45
Complete atrioventricular septal defect in the era of prenatal diagnosis. ( 27981284 )
2016
46
Surgical repair of a complete atrioventricular septal defect with tetralogy of Fallot using a classical one-patch technique and pulmonary valve preservation. ( 28106970 )
2016
47
Atrioventricular septal defect in an adult patient: There are 'clefts' and clefts. ( 26947378 )
2016
48
Shunt Lesions Part I: Patent Ductus Arteriosus, Atrial Septal Defect, Ventricular Septal Defect, and Atrioventricular Septal Defect. ( 27490614 )
2016
49
Anesthetic management of a child with complete atrioventricular septal defect and single ventricle posted for noncardiac surgery. ( 27746571 )
2016
50
Right-Dominant Unbalanced Atrioventricular Septal Defect: Echocardiography in Surgical Decision Making. ( 27939051 )
2016

Variations for Atrioventricular Septal Defect

ClinVar genetic disease variations for Atrioventricular Septal Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh38 Chromosome 2, 216478216: 216478216
3 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh38 Chromosome 2, 216415427: 216415427
4 SMARCAL1 NM_001127207.1(SMARCAL1): c.723C> A (p.Cys241Ter) single nucleotide variant Pathogenic rs748106387 GRCh37 Chromosome 2, 217280150: 217280150
5 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh37 Chromosome 12, 114836484: 114836484
6 TBX5 NM_000192.3(TBX5): c.404T> G (p.Leu135Arg) single nucleotide variant Likely pathogenic rs1057519050 GRCh38 Chromosome 12, 114398679: 114398679

Expression for Atrioventricular Septal Defect

Search GEO for disease gene expression data for Atrioventricular Septal Defect.

Pathways for Atrioventricular Septal Defect

GO Terms for Atrioventricular Septal Defect

Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane protein complex GO:0098797 8.62 EVC EVC2

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.99 GATA4 GATA6 NKX2-5 TBX1 TBX5
2 cell-cell signaling GO:0007267 9.9 EDN1 GATA4 GJA1 TBX5
3 heart looping GO:0001947 9.71 GATA4 GJA1 NKX2-5
4 cell development GO:0048468 9.7 GATA4 GATA6 GDF1
5 digestive tract development GO:0048565 9.69 GATA4 GATA6 NKX2-6
6 tissue development GO:0009888 9.64 GATA4 GATA6
7 thyroid gland development GO:0030878 9.63 NKX2-5 TBX1
8 anatomical structure formation involved in morphogenesis GO:0048646 9.63 GATA4 GATA6
9 blood vessel morphogenesis GO:0048514 9.63 EDN1 GJA1 TBX1
10 cardiac muscle tissue development GO:0048738 9.62 GATA6 NKX2-5
11 negative regulation of cardiac muscle cell proliferation GO:0060044 9.62 GJA1 TBX5
12 middle ear morphogenesis GO:0042474 9.61 EDN1 TBX1
13 outflow tract septum morphogenesis GO:0003148 9.61 GATA6 NKX2-5 TBX1
14 adult heart development GO:0007512 9.58 GJA1 NKX2-5
15 ventricular cardiac muscle cell development GO:0055015 9.58 NKX2-5 NKX2-6
16 embryonic heart tube development GO:0035050 9.58 GJA1 NKX2-5 NKX2-6
17 cardiac ventricle morphogenesis GO:0003208 9.57 GATA4 NKX2-5
18 pericardium development GO:0060039 9.56 NKX2-6 TBX5
19 intestinal epithelial cell differentiation GO:0060575 9.55 GATA4 GATA6
20 pharyngeal system development GO:0060037 9.54 NKX2-5 NKX2-6 TBX1
21 atrial septum morphogenesis GO:0060413 9.5 GATA4 NKX2-5 TBX5
22 atrial cardiac muscle cell development GO:0055014 9.49 NKX2-5 NKX2-6
23 bundle of His development GO:0003166 9.48 NKX2-5 TBX5
24 cardiac muscle cell differentiation GO:0055007 9.46 GATA4 GATA6 NKX2-5 TBX5
25 endocardial cushion development GO:0003197 9.43 CRELD1 GATA4 TBX5
26 positive regulation of cardioblast differentiation GO:0051891 9.26 GATA4 GATA6 NKX2-5 TBX5
27 heart development GO:0007507 9.23 EDN1 GATA4 GATA6 GJA1 NKX2-5 NKX2-6
28 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 EDN1 GATA4 GATA6 NKX2-5 TBX1 TBX5

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.8 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
2 DNA binding transcription factor activity GO:0003700 9.7 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1
3 transcription factor binding GO:0008134 9.62 GATA4 GATA6 NKX2-5 TBX5
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.26 GATA4 GATA6 NKX2-5 TBX5
5 sequence-specific DNA binding GO:0043565 9.17 FOXP1 GATA4 GATA6 NKX2-5 NKX2-6 TBX1

Sources for Atrioventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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